K22E (p.Lys22Glu) variant of MSH6 (DNA mismatch repair protein Msh6)
K22E (p.Lys22Glu) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
K22E (p.Lys22Glu) variant details
- p.Lys22Glu
- rs1060502897
- ClinGen CA16610863
- ClinVar RCV000473092
- ClinVar RCV000582480
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.10
- MetaLR 0.35
- MetaSVM -0.83
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)